MT-ATP6 Mitochondrial Disease Variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

Mitochondrial complex V (CV) generates cellular energy as adenosine triphosphate (ATP). Mitochondrial disease caused by the m.8993T>G pathogenic variant in CV subunit gene, MT-ATP6, was among the first described human mitochondrial DNA (mtDNA) diseases. Due to a lack of clinically-available funct...

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Détails bibliographiques
Publié dans:Hum Mutat
Auteurs principaux: Ganetzky, Rebecca D., Stendel, Claudia, McCormick, Elizabeth M., Zolkipli-Cunningham, Zarazuela, Goldstein, Amy C., Klopstock, Thomas, Falk, Marni J.
Format: Artigo
Langue:Inglês
Publié: 2019
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6506718/
https://ncbi.nlm.nih.gov/pubmed/30763462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23723
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